Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP924991.RAGq42-KXhaHiBGgc8zBPVsv0_miW16q0rvQu4_EHEWy4130_assertion> ?p ?o ?g. }
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- NP924991.RAGq42-KXhaHiBGgc8zBPVsv0_miW16q0rvQu4_EHEWy4130_assertion type Assertion NP924991.RAGq42-KXhaHiBGgc8zBPVsv0_miW16q0rvQu4_EHEWy4130_head.
- NP924991.RAGq42-KXhaHiBGgc8zBPVsv0_miW16q0rvQu4_EHEWy4130_assertion description "[Mutations in SLC9A6 are associated with Christianson syndrome (OMIM 300243), a syndromic form of X-linked mental retardation (XLMR) characterized by microcephaly, severe global developmental delay, ataxia and seizures.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP924991.RAGq42-KXhaHiBGgc8zBPVsv0_miW16q0rvQu4_EHEWy4130_provenance.
- NP924991.RAGq42-KXhaHiBGgc8zBPVsv0_miW16q0rvQu4_EHEWy4130_assertion evidence source_evidence_literature NP924991.RAGq42-KXhaHiBGgc8zBPVsv0_miW16q0rvQu4_EHEWy4130_provenance.
- NP924991.RAGq42-KXhaHiBGgc8zBPVsv0_miW16q0rvQu4_EHEWy4130_assertion SIO_000772 21932316 NP924991.RAGq42-KXhaHiBGgc8zBPVsv0_miW16q0rvQu4_EHEWy4130_provenance.
- NP924991.RAGq42-KXhaHiBGgc8zBPVsv0_miW16q0rvQu4_EHEWy4130_assertion wasDerivedFrom befree-2016 NP924991.RAGq42-KXhaHiBGgc8zBPVsv0_miW16q0rvQu4_EHEWy4130_provenance.
- NP924991.RAGq42-KXhaHiBGgc8zBPVsv0_miW16q0rvQu4_EHEWy4130_assertion wasGeneratedBy ECO_0000203 NP924991.RAGq42-KXhaHiBGgc8zBPVsv0_miW16q0rvQu4_EHEWy4130_provenance.